Variant report

Variant	rs6944492
Chromosome Location	chr7:140776018-140776019
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140767357..140769762-chr7:140774657..140776517,2	K562	blood:
2	chr7:140713242..140716757-chr7:140770540..140776348,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11762357	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1860752	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2365575	0.89[ASN][1000 genomes]
rs4726263	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491554	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498933	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511001	1.00[ASN][1000 genomes]
rs534348	1.00[ASN][1000 genomes]
rs536809	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs553046	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55949610	0.94[ASN][1000 genomes]
rs560981	0.94[ASN][1000 genomes]
rs6464278	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464330	0.89[ASN][1000 genomes]
rs6960603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962233	0.94[ASN][1000 genomes]
rs6967482	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs722219	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7778658	0.92[ASN][1000 genomes]
rs7794979	0.82[AMR][1000 genomes]
rs7805034	0.94[ASN][1000 genomes]
rs7806026	0.94[ASN][1000 genomes]
rs7810146	0.89[ASN][1000 genomes]
rs801157	1.00[ASN][1000 genomes]
rs801158	1.00[ASN][1000 genomes]
rs9640323	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889248	chr7:140754785-140809205	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3417140	chr7:140768130-140783190	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6944492	TMEM178B	cis	Esophagus Mucosa	GTEx
rs6944492	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140770600-140777000	Active TSS	Fetal Brain Female	brain
2	chr7:140770800-140776800	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:140771000-140777000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:140771000-140777000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:140772000-140777000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:140774400-140776800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr7:140774800-140776200	Weak transcription	Psoas Muscle	Psoas
8	chr7:140774800-140776800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:140774800-140783200	Weak transcription	Pancreas	Pancrea
10	chr7:140775000-140776200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:140775000-140776600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:140775000-140776600	Active TSS	Brain Angular Gyrus	brain
13	chr7:140775000-140776600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:140775600-140776600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:140775600-140776600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:140775600-140776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:140775800-140776200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140775800-140776200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:140775800-140776200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr7:140775800-140776200	Enhancers	Brain Substantia Nigra	brain
21	chr7:140775800-140776400	Flanking Active TSS	Fetal Brain Male	brain
22	chr7:140776000-140776200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:140776000-140776400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr7:140776000-140776600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:140776000-140776600	Bivalent/Poised TSS	HSMMtube	muscle
26	chr7:140776000-140776800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:140776000-140777000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:140776000-140778600	Active TSS	Brain Anterior Caudate	brain

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